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The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1
To be able to effectively treat any disease, researchers and doctors must first understand it. Each and every condition has a unique pathology involving complex relationships between a variety of substances inside the body. One condition the medical community is working hard to try and overcome is Menkes' Disease (MD). MD is an X-linked recessive disorder, the onset of which is associated with a copper deficiency that leads to diminished function of copper-dependent enzymes. MD receives the attention it receives largely because of its severity. Most MD patients die in early childhood and suffer from mental retardation along with epileptic symptoms, growth retardation, hypothermia, hypopigmentation and several other physical deformities. Less severe cases are categorized by issues with connective tissue formation. However, despite the seriousness of MD, researchers have made great strides in understanding how the disease forms, creating promise for the search for an effective treatment.
This was precisely the focus of the study conducted by M. Vonk et al. from University Medical Center Utrecht in the Netherlands. It is known that MD forms from mutations in the ATP7A gene. Even when copper intake is increased through dietary changes, dysfunctional ATP7A prevents copper transport across the intestinal mucosa into the blood and across the blood-brain barrier, which leads to the copper deficiency known to cause MD. Previous studies have found COMMD1 to be effective in increasing ATP7B protein stability, and since ATP7B is highly homologous to ATP7A, M.Vonk's research team wanted to see how COMMD1 would affect the functionality of ATP7A. To do this, the research team needed to measure the activity of copper-dependent enzymes, one of which is lysyl oxidase (LOX). For this part of the study, the team used the Amplite® Fluorimetric Lysyl Oxidase Assay Kit. By using Amplite's proprietary substrate that releases hydrogen peroxide upon LOX oxidation, researchers were able to gain a clear reading of LOX activity, which allowed them to understand the role that COMMD1 was having in enhancing copper transport to this copper-dependent enzyme.
The results of this study offer promise moving forward for the community searching for an effective treatment for MD. In the end, COMMD1 was convincingly effective in regulating the copper transport activity of ATP7A, allowing for increased copper intake in the blood and brain. While additional research needs to be done as to how to implement these findings into a useable therapy, this research demonstrates a significant advance in the search for this developmental disease. Never before had COMMD1 been considered a potential treatment, but this study will make it a priority for the research community moving forward. However, findings like this would not have been possible if it had not been for the quality materials used in the study. For example, the Amplite® Fluorimetric Lysyl Oxidase Assay Kit is known for its quality readings and dependability. By being able to effectively measure LOX activity, researchers were able to pinpoint the effects of COMMD1, opening the door for more concentrated research moving forward.
This was precisely the focus of the study conducted by M. Vonk et al. from University Medical Center Utrecht in the Netherlands. It is known that MD forms from mutations in the ATP7A gene. Even when copper intake is increased through dietary changes, dysfunctional ATP7A prevents copper transport across the intestinal mucosa into the blood and across the blood-brain barrier, which leads to the copper deficiency known to cause MD. Previous studies have found COMMD1 to be effective in increasing ATP7B protein stability, and since ATP7B is highly homologous to ATP7A, M.Vonk's research team wanted to see how COMMD1 would affect the functionality of ATP7A. To do this, the research team needed to measure the activity of copper-dependent enzymes, one of which is lysyl oxidase (LOX). For this part of the study, the team used the Amplite® Fluorimetric Lysyl Oxidase Assay Kit. By using Amplite's proprietary substrate that releases hydrogen peroxide upon LOX oxidation, researchers were able to gain a clear reading of LOX activity, which allowed them to understand the role that COMMD1 was having in enhancing copper transport to this copper-dependent enzyme.
The results of this study offer promise moving forward for the community searching for an effective treatment for MD. In the end, COMMD1 was convincingly effective in regulating the copper transport activity of ATP7A, allowing for increased copper intake in the blood and brain. While additional research needs to be done as to how to implement these findings into a useable therapy, this research demonstrates a significant advance in the search for this developmental disease. Never before had COMMD1 been considered a potential treatment, but this study will make it a priority for the research community moving forward. However, findings like this would not have been possible if it had not been for the quality materials used in the study. For example, the Amplite® Fluorimetric Lysyl Oxidase Assay Kit is known for its quality readings and dependability. By being able to effectively measure LOX activity, researchers were able to pinpoint the effects of COMMD1, opening the door for more concentrated research moving forward.
References
- Vonk, Willianne IM, et al. "The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression." Cellular and Molecular Life Sciences 69.1 (2012): 149-163.
Original created on November 1, 2017, last updated on October 25, 2022
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